Incidental Mutation 'R6039:Fstl1'
ID 486766
Institutional Source Beutler Lab
Gene Symbol Fstl1
Ensembl Gene ENSMUSG00000022816
Gene Name follistatin-like 1
Synonyms TSC-36
MMRRC Submission 043259-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.767) question?
Stock # R6039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 37597417-37656878 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37641538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 105 (S105T)
Ref Sequence ENSEMBL: ENSMUSP00000110411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114763]
AlphaFold Q62356
Predicted Effect probably benign
Transcript: ENSMUST00000114763
AA Change: S105T

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110411
Gene: ENSMUSG00000022816
AA Change: S105T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
FOLN 28 51 6.8e-7 SMART
KAZAL 51 96 4.48e-16 SMART
low complexity region 99 110 N/A INTRINSIC
EFh 146 173 5.43e1 SMART
EFh 195 223 5.08e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135668
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, soft and enlarged trachea, cyanosis, primary atelectasis, lung epithelial cell hyperplasia, over-expanded bronchiole, impaired pneumocyte differentiation and maturation, and decreased surfactant production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C T 6: 92,885,527 (GRCm39) R416Q possibly damaging Het
Adgre1 C A 17: 57,713,859 (GRCm39) D181E probably benign Het
Arhgap24 T C 5: 103,028,652 (GRCm39) S183P probably damaging Het
Asb1 T C 1: 91,474,748 (GRCm39) L90P probably damaging Het
Bmp3 T C 5: 99,020,209 (GRCm39) F211L probably benign Het
C8a A G 4: 104,703,139 (GRCm39) I306T probably benign Het
Cdkn3 G A 14: 47,007,373 (GRCm39) G177R probably damaging Het
Chat A G 14: 32,170,984 (GRCm39) S172P probably damaging Het
Chd5 CAAGAAGAAGAAGAAGAA CAAGAAGAAGAAGAA 4: 152,438,078 (GRCm39) probably benign Het
Cyp4a12a T C 4: 115,184,420 (GRCm39) I265T probably damaging Het
Dlst T A 12: 85,165,664 (GRCm39) probably null Het
Dnmt1 A T 9: 20,837,716 (GRCm39) probably benign Het
Fbn1 C T 2: 125,205,800 (GRCm39) E1066K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Gm19410 C G 8: 36,276,518 (GRCm39) A1725G probably benign Het
Hspb7 A G 4: 141,151,215 (GRCm39) N119S probably damaging Het
Il20 T A 1: 130,838,478 (GRCm39) D73V possibly damaging Het
Insrr T C 3: 87,716,608 (GRCm39) I612T possibly damaging Het
Kcnma1 T C 14: 23,359,105 (GRCm39) Y1107C probably benign Het
Klhl32 A G 4: 24,792,615 (GRCm39) probably null Het
Krt77 C A 15: 101,769,351 (GRCm39) R470L possibly damaging Het
Muc1 T C 3: 89,139,336 (GRCm39) Y579H probably damaging Het
Myof T C 19: 37,966,132 (GRCm39) D396G probably damaging Het
Myom1 T G 17: 71,417,746 (GRCm39) D1316E probably damaging Het
Nbea T C 3: 55,912,538 (GRCm39) E1083G probably benign Het
Nek9 G A 12: 85,359,859 (GRCm39) A531V probably benign Het
Nlrp12 A T 7: 3,290,002 (GRCm39) I170N possibly damaging Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Paqr4 T C 17: 23,958,968 (GRCm39) D11G probably damaging Het
Parp8 A G 13: 117,014,134 (GRCm39) S561P probably damaging Het
Pcgf5 T A 19: 36,420,306 (GRCm39) F179L probably damaging Het
Pde4d A T 13: 110,084,876 (GRCm39) Q422L probably damaging Het
Pigs T A 11: 78,232,651 (GRCm39) V495E probably damaging Het
Polh C T 17: 46,498,959 (GRCm39) R252H probably benign Het
Psg28 T C 7: 18,160,107 (GRCm39) D363G possibly damaging Het
Ptgir A T 7: 16,640,815 (GRCm39) I36F possibly damaging Het
Ptprr G A 10: 116,072,668 (GRCm39) probably null Het
Rax C T 18: 66,068,418 (GRCm39) G229D unknown Het
Secisbp2l T A 2: 125,615,136 (GRCm39) H163L probably benign Het
Sf3a2 A G 10: 80,637,297 (GRCm39) Y45C probably damaging Het
Sgo2a C T 1: 58,055,775 (GRCm39) T653I possibly damaging Het
Slc38a9 A T 13: 112,806,231 (GRCm39) I26F probably damaging Het
Slc5a8 A G 10: 88,722,436 (GRCm39) I90V probably benign Het
Slx4 G A 16: 3,803,911 (GRCm39) H968Y possibly damaging Het
Stam2 T C 2: 52,599,611 (GRCm39) T233A probably benign Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Trav4-2 G A 14: 53,655,866 (GRCm39) V8M possibly damaging Het
Ttll5 T A 12: 85,878,729 (GRCm39) H45Q probably damaging Het
Ttn C T 2: 76,714,762 (GRCm39) probably benign Het
Ush2a T A 1: 188,051,217 (GRCm39) F234L possibly damaging Het
Vmn2r74 T A 7: 85,607,526 (GRCm39) probably null Het
Wdr6 CTG C 9: 108,450,994 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,291 (GRCm39) S997P possibly damaging Het
Zfp853 G A 5: 143,274,529 (GRCm39) Q364* probably null Het
Other mutations in Fstl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Fstl1 APN 16 37,647,175 (GRCm39) missense probably damaging 1.00
PIT4377001:Fstl1 UTSW 16 37,636,167 (GRCm39) missense probably benign 0.45
R0413:Fstl1 UTSW 16 37,641,516 (GRCm39) critical splice acceptor site probably null
R1325:Fstl1 UTSW 16 37,649,083 (GRCm39) missense probably damaging 0.99
R1816:Fstl1 UTSW 16 37,647,086 (GRCm39) critical splice acceptor site probably null
R2264:Fstl1 UTSW 16 37,597,653 (GRCm39) splice site probably benign
R3809:Fstl1 UTSW 16 37,647,113 (GRCm39) missense probably damaging 1.00
R4080:Fstl1 UTSW 16 37,642,965 (GRCm39) missense probably benign 0.05
R5351:Fstl1 UTSW 16 37,649,542 (GRCm39) missense probably damaging 0.98
R5601:Fstl1 UTSW 16 37,647,161 (GRCm39) missense probably benign 0.35
R6039:Fstl1 UTSW 16 37,641,538 (GRCm39) missense probably benign 0.18
R6849:Fstl1 UTSW 16 37,641,521 (GRCm39) missense probably benign 0.10
R6983:Fstl1 UTSW 16 37,651,980 (GRCm39) missense probably benign 0.08
R7243:Fstl1 UTSW 16 37,647,088 (GRCm39) missense probably benign
R9170:Fstl1 UTSW 16 37,647,140 (GRCm39) missense probably damaging 0.99
R9752:Fstl1 UTSW 16 37,649,534 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACAGGCAGACATCCTTAG -3'
(R):5'- TGGATCCAAAGTCCTGACCC -3'

Sequencing Primer
(F):5'- ACAGGACCTGAGTTCAGTTTCCAG -3'
(R):5'- TGACCCACAGATGACCTTGG -3'
Posted On 2017-08-16